C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: Bardet-Biedl syndrome 2 (human)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000031755 Bbs2 10090 - 8:94067954-94098811 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000034206 Bbs2-001 94067954-94098811 protein_coding
  ENSMUST00000170208 Bbs2-003 94068144-94070213 processed_transcript
  ENSMUST00000172347 Bbs2-002 94075140-94079756 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000034206ENSMUST00000170208ENSMUST00000172347
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000034206 4.600±1.68 8.202±2.48 6.163±2.00 10.161±4.24 4.454±0.91 2.196±1.12 3.294±0.79 6.700±1.42 1.339±0.78 5.573±0.47 0.965±0.32 7.746±3.30 1.999±0.94 10.232±3.86
ENSMUST00000170208 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 5.665±0.00 N/A
ENSMUST00000172347 5.225±1.10 12.221±2.09 N/A 11.683±0.00 4.948±1.00 3.673±1.25 3.328±0.02 7.285±1.56 1.057±0.27 5.202±0.00 N/A 9.980±0.88 N/A 9.020±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00048V CIL_00048V_0002 CGP 8:94037198-94098811
CIL_00048Y CIL_00048Y_0002 CGP 8:94067954-94139031

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001103 IEA RNA polymerase II repressing transcription factor binding
GO:0005737 IEA cytoplasm
GO:0005886 IEA plasma membrane
GO:0007288 IMP sperm axoneme assembly
GO:0008104 IMP protein localization
GO:0010629 IMP negative regulation of gene expression
GO:0014824 IMP artery smooth muscle contraction
GO:0016020 IDA membrane
GO:0021756 IMP striatum development
GO:0021766 IMP hippocampus development
GO:0021987 IMP cerebral cortex development
GO:0030534 IMP adult behavior
GO:0031514 IMP motile cilium
GO:0033210 IMP leptin-mediated signaling pathway
GO:0033365 IDA protein localization to organelle
GO:0034464 IDA BBSome
GO:0036064 ISO ciliary basal body
GO:0038108 IMP negative regulation of appetite by leptin-mediated signaling pathway
GO:0040015 IMP negative regulation of multicellular organism growth
GO:0040018 IMP positive regulation of multicellular organism growth
GO:0042311 IMP vasodilation
GO:0042384 IMP cilium assembly
GO:0043001 IEA Golgi to plasma membrane protein transport
GO:0044321 IMP response to leptin
GO:0045444 IEP fat cell differentiation
GO:0045494 IMP photoreceptor cell maintenance
GO:0048854 IMP brain morphogenesis
GO:0051216 IMP cartilage development
GO:0060271 IMP cilium morphogenesis
GO:0060296 IMP regulation of cilium beat frequency involved in ciliary motility

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000041621 bbs2 Bardet-Biedl syndrome 2 protein_coding Danio_rerio
ENSG00000125124 BBS2 Bardet-Biedl syndrome 2 protein_coding Homo_sapiens

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